Canonical Allele Identifier: CA402507254

Gene: DYM

Linked Data

• MyVariant Identifiers: chr18:g.46645247A>C (hg19) ; chr18:g.49118877A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49118877A>C , CM000680.2:g.49118877A>C	GRCh38
NC_000018.9:g.46645247A>C , CM000680.1:g.46645247A>C	GRCh37
NC_000018.8:g.44899245A>C	NCBI36
NG_009239.1:g.346833T>G
NG_009239.2:g.346857T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675505.1:c.1778T>G MANE Select	ENSP00000501694.1:p.Ile593Ser
ENST00000269445.10:c.1613T>G	ENSP00000269445.6:p.Ile538Ser
ENST00000442713.6:c.1043T>G	ENSP00000395942.2:p.Ile348Ser
NM_017653.3:c.1613T>G	NP_060123.3:p.Ile538Ser
XM_006722488.2:c.1613T>G	XP_006722551.1:p.Ile538Ser
XM_006722490.2:c.1613T>G	XP_006722553.1:p.Ile538Ser
XM_011526036.1:c.1613T>G	XP_011524338.1:p.Ile538Ser
XM_011526037.1:c.1610T>G	XP_011524339.1:p.Ile537Ser
XM_011526038.1:c.1610T>G	XP_011524340.1:p.Ile537Ser
XM_011526039.1:c.1613T>G	XP_011524341.1:p.Ile538Ser
XM_011526040.1:c.1445T>G	XP_011524342.1:p.Ile482Ser
XM_011526041.1:c.1564-21362T>G	XP_011524343.1:n.1564-21362T>G
XM_011526042.1:c.1613T>G	XP_011524344.1:p.Ile538Ser
XM_011526043.1:c.1613T>G	XP_011524345.1:p.Ile538Ser
NM_001353210.1:c.1610T>G	NP_001340139.1:p.Ile537Ser
NM_001353211.1:c.1610T>G	NP_001340140.1:p.Ile537Ser
NM_001353212.1:c.1775T>G	NP_001340141.1:p.Ile592Ser
NM_001353213.1:c.1775T>G	NP_001340142.1:p.Ile592Ser
NM_001353214.1:c.1778T>G	NP_001340143.1:p.Ile593Ser
NM_001353215.1:c.1729-21362T>G	NP_001340144.1:n.1729-21362T>G
NM_001353216.1:c.1564-21362T>G	NP_001340145.1:n.1564-21362T>G
NM_017653.4:c.1613T>G	NP_060123.3:p.Ile538Ser
XM_006722488.3:c.1613T>G	XP_006722551.1:p.Ile538Ser
XM_011526036.2:c.1613T>G	XP_011524338.1:p.Ile538Ser
XM_011526038.2:c.1610T>G	XP_011524340.1:p.Ile537Ser
XM_011526039.2:c.1613T>G	XP_011524341.1:p.Ile538Ser
XM_011526041.2:c.1564-21362T>G	XP_011524343.1:n.1564-21362T>G
XM_011526042.2:c.1613T>G	XP_011524344.1:p.Ile538Ser
XM_017025795.1:c.1607T>G	XP_016881284.1:p.Ile536Ser
XM_017025796.2:c.1433T>G	XP_016881285.1:p.Ile478Ser
XM_017025800.2:c.1561-21362T>G	XP_016881289.1:n.1561-21362T>G
XM_017025801.1:c.1558-21362T>G	XP_016881290.1:n.1558-21362T>G
XR_002958177.1:n.1970T>G
NM_001353210.3:c.1610T>G	NP_001340139.1:p.Ile537Ser
NM_001353211.3:c.1610T>G	NP_001340140.1:p.Ile537Ser
NM_001353212.3:c.1775T>G	NP_001340141.1:p.Ile592Ser
NM_001353213.3:c.1775T>G	NP_001340142.1:p.Ile592Ser
NM_001353214.3:c.1778T>G MANE Select	NP_001340143.1:p.Ile593Ser
NM_001353215.3:c.1729-21362T>G	NP_001340144.1:n.1729-21362T>G
NM_001353216.3:c.1564-21362T>G	NP_001340145.1:n.1564-21362T>G
NM_001374428.1:c.1778T>G	NP_001361357.1:p.Ile593Ser
NM_001374429.1:c.1772T>G	NP_001361358.1:p.Ile591Ser
NM_001374430.1:c.1778T>G	NP_001361359.1:p.Ile593Ser
NM_001374431.1:c.1778T>G	NP_001361360.1:p.Ile593Ser
NM_001374432.1:c.1652T>G	NP_001361361.1:p.Ile551Ser
NM_001374433.1:c.1613T>G	NP_001361362.1:p.Ile538Ser
NM_001374434.1:c.1613T>G	NP_001361363.1:p.Ile538Ser
NM_001374435.1:c.1610T>G	NP_001361364.1:p.Ile537Ser
NM_001374436.1:c.1487T>G	NP_001361365.1:p.Ile496Ser
NM_001374437.1:c.1430T>G	NP_001361366.1:p.Ile477Ser
NM_001374438.1:c.1561-21362T>G	NP_001361367.1:n.1561-21362T>G
NM_001374439.1:c.1558-21362T>G	NP_001361368.1:n.1558-21362T>G
NM_001374440.1:c.1385T>G	NP_001361369.1:p.Ile462Ser
NM_001374441.1:c.1208T>G	NP_001361370.1:p.Ile403Ser
NM_001374442.1:c.1043T>G	NP_001361371.1:p.Ile348Ser
NM_001374443.1:c.1040T>G	NP_001361372.1:p.Ile347Ser
NM_001374444.1:c.994-21362T>G	NP_001361373.1:n.994-21362T>G
NM_017653.6:c.1613T>G	NP_060123.3:p.Ile538Ser